Journal article
International nosology of heritable disorders of connective tissue, Berlin, 1986
P Beighton, A De Paepe, D Danks, G Finidori, T Gedde-Dahl, R Goodman, JG Hall, DW Hillister, W Horton, VA McKusick, JM Opitz, FM Pope, RE Pyeritz, D Rimoin l., D Sillence, JW Spranger, E Thompson, P Tsipouras, D Viljoen, I Winship
American Journal of Medical Genetics | WILEY-LISS | Published : 1988
Abstract
The heritable disorders of connective tissue have proven to be very heterogeneous and problems have arisen concerning syndromic boundaries, nomenclature, and classification. In an attempt to resolve these dilemmas, a group of experts participated in a Workshop held during the 7th International Congress of Human Genetics, Berlin, in September, 1986. At the Workshop, overviews were given of the uses and limitations of nosology (McKusick), diagnostic criteria (Pyeritz), and practical issues in biochemical and molecular diagnosis (Hollister). Invited speakers then gave brief comments on the current status of the nosology of specific categories of inherited connective tissue disorders and made re..
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